Batta A, Hatwal J. Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome. World J Cardiol 2024; 16(1): 1-4 [PMID: 38313390 DOI: 10.4330/wjc.v16.i1.1]
Corresponding Author of This Article
Akash Batta, Doctor, MD, Assistant Professor, Researcher, Department of Cardiology, Dayanand Medical College and Hospital, Tagore Nagar, Civil Lines, Ludhiana 141001, Punjab, India. akashbatta02@gmail.com
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Editorial
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Cardiol. Jan 26, 2024; 16(1): 1-4 Published online Jan 26, 2024. doi: 10.4330/wjc.v16.i1.1
Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome
Akash Batta, Juniali Hatwal
Akash Batta, Department of Cardiology, Dayanand Medical College and Hospital, Ludhiana 141001, Punjab, India
Juniali Hatwal, Department of Internal Medicine, Post Graduate Institute of Medical Education & Research, Chandigarh 160012, India
Author contributions: Batta A and Hatwal J contributed equally to this work.
Conflict-of-interest statement: All the authors declare that they have no conflict of interest.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Akash Batta, Doctor, MD, Assistant Professor, Researcher, Department of Cardiology, Dayanand Medical College and Hospital, Tagore Nagar, Civil Lines, Ludhiana 141001, Punjab, India. akashbatta02@gmail.com
Received: November 5, 2023 Peer-review started: November 5, 2023 First decision: November 30, 2023 Revised: December 3, 2023 Accepted: December 18, 2023 Article in press: December 18, 2023 Published online: January 26, 2024
Abstract
Down syndrome is the most common chromosomal abnormality encountered in clinical practice with 50% of them having associated congenital heart disease (CHD). Shunt lesions account for around 75% of all CHDs in Down syndrome. Down syndrome patients, especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension (PH) compared with shunt lesions in general population. This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality. However, despite clear recommendations, there is wide gap between actual practice and fear of underlying PH which often leads to surgical refusals in Down syndrome even when the shunt is reversible. Another peculiarity is that Down syndrome patients can develop PH even after successful correction of shunt. It is not uncommon to come across Down syndrome patients with uncorrected shunts in adulthood with irreversible PH at which stage intracardiac repair is contraindicated and the only option available is a combined heart-lung transplant. However, despite the guidelines laid by authorities, the rates of cardiac transplant in adult Down syndrome remain dismal largely attributable to the high prevalence of intellectual disability in them. The index case presents a real-world scenario highlighting the impact of severe PH on treatment strategies and discrimination driven by the fear of worse outcomes in these patients.
Core Tip: Down syndrome is the most common chromosomal abnormality with roughly half of them having associated congenital heart disease (CHD). People with Down syndrome are especially predisposed to early development of severe pulmonary hypertension (PH) compared with CHDs in general population. It is not uncommon to come across Down syndrome patients with uncorrected shunts in adulthood with irreversible PH at which stage the only option available is a combined heart-lung transplant. However, despite the guidelines laid by authorities, the rates of cardiac transplant in adults with Down syndrome remain dismal largely attributable to the high prevalence of intellectual disability in them.
